Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 5:1278750 (forward strand) | View in location tab

Co-located

with COSMIC COSM299795 (G/A), COSM299794 (G/A) ; HGMD-PUBLIC CM066607

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_198253.2:c.2177C>T

This variant has 13 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 6 transcripts and is associated with 1 phenotype.

Variant displays